A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B. This activity was proposed to play a role in epi...

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Bibliographic Details
Main Authors: Hala Soliman, Heba Gamal Eldeen, Mustafa Ibrahim Mustafa
Format: Article
Language:English
Published: SpringerOpen 2015-10-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Cathepsin C gene
CTSC
Periodontitis
Palmoplantar keratoderma
Papillon–Lefevre syndrome
PLS
Egyptians
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015000166

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http://www.sciencedirect.com/science/article/pii/S1110863015000166

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